Canonical Allele Identifier: CA382647508
Community Standard Title: NM_178510.2(ANKK1):c.2137G>T (p.Glu713Ter)
Gene: ANKK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.113400106G>T , CM000673.2:g.113400106G>T GRCh38
NC_000011.9:g.113270828G>T , CM000673.1:g.113270828G>T GRCh37
NC_000011.8:g.112776038G>T NCBI36
NG_012976.1:g.17316G>T

Transcript Alleles

HGVS Amino-acid Change
NM_178510.2:c.2137G>T MANE Select NP_848605.1:p.Glu713Ter
ENST00000303941.4:c.2137G>T MANE Select ENSP00000306678.3:p.Glu713Ter
NM_178510.1:c.2137G>T NP_848605.1:p.Glu713Ter
ENST00000303941.3:c.2137G>T ENSP00000306678.3:p.Glu713Ter
XM_011542736.1:c.2170G>T XP_011541038.1:p.Glu724Ter
XM_011542736.2:c.2170G>T XP_011541038.1:p.Glu724Ter
XM_011542737.1:c.2140G>T XP_011541039.1:p.Glu714Ter
XM_011542737.2:c.2140G>T XP_011541039.1:p.Glu714Ter
XM_011542738.1:c.1948G>T XP_011541040.1:p.Glu650Ter
XM_011542738.2:c.1948G>T XP_011541040.1:p.Glu650Ter
XM_017017475.1:c.2167G>T XP_016872964.1:p.Glu723Ter